{"id":"W4323533826","doi":"10.1084/jem.20221755","title":"Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease","year":2023,"lang":"en","type":"article","venue":"The Journal of Experimental Medicine","topic":"Asthma and respiratory diseases","field":"Medicine","cited_by":112,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; North York General Hospital; Genome British Columbia; Toronto General Hospital; University of Toronto; BC Children's Hospital; University of British Columbia","funders":"NHLBI Division of Intramural Research; Canadian Institutes of Health Research; NIHR BioResource; National Institutes of Health; University of British Columbia; Institut National Du Cancer; Killam Trusts; Croucher Foundation; Ministero della Salute; Children's Hospital Foundation; Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale; National Institute of Allergy and Infectious Diseases; Jeffrey Modell Foundation; Agence Nationale de la Recherche; Queen Mary University of London; BC Children's Hospital; National Institute for Health and Care Research; Genome British Columbia; Rockefeller University; BC Children’s Hospital Foundation; Canada Research Chairs; Penta Foundation UK; U.S. Department of Health and Human Services; ViiV Healthcare; St. Giles Foundation; Howard Hughes Medical Institute; University of Hong Kong","keywords":"STAT6; Immunology; Phenotype; STAT protein; Disease; Germline; Allergy; Immunoglobulin E; Allergic inflammation; Biology; Immune system; Medicine; Antibody; Genetics; Gene; Interleukin 4; Internal medicine; STAT3","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001219692,0.0007095142,0.0003170067,0.0003681245,0.0003415302,0.0002310504,0.0001545671,0.0003613693,0.001547414],"category_scores_gemma":[0.0003404021,0.0001523099,0.0003026922,0.0002995041,0.0006113412,0.0001034924,0.0003129465,0.0003305004,0.0003030399],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001580433,"about_ca_system_score_gemma":0.0001045017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007044946,"about_ca_topic_score_gemma":0.0009144354,"domain_scores_codex":[0.9998611,0.00002333666,0.00001760401,0.00004456643,0.00002454723,0.00002874095],"domain_scores_gemma":[0.9998484,0.00004303998,0.00004734506,0.00001249255,0.000009232618,0.00003958636],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00165438,0.0002645941,0.3239765,0.000220268,0.0003661027,0.1612305,0.0008950919,0.0008858774,0.478077,0.0008896716,0.002835104,0.02870498],"study_design_scores_gemma":[0.0001740119,0.001197795,0.5611243,0.00004239989,0.0002909242,0.3944839,0.000495847,0.001561366,0.03448803,0.0007851775,0.005311439,0.00004472111],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998044,0.0002641267,0.0007054087,0.00006902905,0.00001071461,0.00001240106,0.0001980967,0.00004421382,0.0006519991],"genre_scores_gemma":[0.999155,0.0001145762,0.000315394,0.00004907234,0.00001371324,0.000002736589,0.0001513613,0.000009163214,0.0001888925],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001547414,"threshold_uncertainty_score":0.005176663,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03457808636143497,"score_gpt":0.3321938680317522,"score_spread":0.2976157816703172,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}